Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.81244914C>G , CM000679.2:g.81244914C>G | GRCh38 |
| NC_000017.10:g.79218714C>G , CM000679.1:g.79218714C>G | GRCh37 |
| NC_000017.9:g.76833309C>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000374759.8:c.*642G>C MANE Select | ENSP00000363891.3:n.*642G>C | |
| NM_001037984.2:c.*642G>C | NP_001033073.1:n.*642G>C | |
| NM_001037984.3:c.*642G>C MANE Select | NP_001033073.1:n.*642G>C |